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Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations

Descriptive Information
Brief Title † Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
Official Title † Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
Brief Summary The autosomal dominant spinocerebellar degenerations are a highly heterogeneous, clinically and genetically, group of rare diseases and of severe evolution. So far, the responsible genes for less than 50% of the cases are known and because of their rarity, there are no phenotype-genotype correlations and well-defined disease history. The aims of the project are to develop and validate quantitative tools of the cerebellar syndrome and of the spasticity, to establish links between the phenotype and the result of the molecular analysis, to identify new loci/genes responsible for these disorders, and to establish the natural history of the disease according to the genotype. To this end, a prospective and multicentric study is proposed for recruiting and evaluating, clinically, a cohort of 225 patients; 150 of them are already followed-up in the centers involved. A DNA collection will be set up in order to search for the implication of new loci and genes. A clinico-genetic database will be set up combining data from successive clinical evaluations and those of genotyping. This strategy will allow access to genetic counselling and molecular diagnosis (positive, presymptomatic or prenatal diagnoses), based on a rational strategy from phenotype-genotype correlations and the information concerning the relative frequency of the genes. The detailed description, with the help of new evaluation tools and of the follow-up of the natural history of the disease according to the genotype, constitutes a crucial step in the design of therapeutical trials in these orphan disorders. Furthermore, the regular follow-up by specialized centers will allow better care of the patients.
Detailed Description
Study Phase Phase 1
Study Type † Observational
Study Design † Observational Model: Family-Based, Time Perspective: Prospective
Primary Outcome Measure †
Secondary Outcome Measure †
Condition † Spinocerebellar Ataxias Spastic Paraplegias
Intervention †
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 225
Start Date † May 2005
Completion Date December 2012
Primary Completion Date
Eligibility Criteria † Inclusion Criteria: - Progressive ataxia or paraplegia, - Familial history of the disease (patients), - Over 18 years of age - No presentation of neurological or osteoarticular disorders Exclusion Criteria: - Refusal to participate in the protocol, - An unknown familial history, - Presenting with an interrecurrent disorder making the evaluation of the disease (stroke, dementia) impossible
Gender Both
Ages 18 Years - 80 Years
Accepts Healthy Volunteers Accepts Healthy Volunteers
Contacts ††
Location Countries † France
Administrative Information
NCT ID † NCT00136630
Organization ID RBM01-59 _ AOM03059
Secondary IDs ††
Responsible Party Sponsor
Study Sponsor † Institut National de la Santé Et de la Recherche Médicale, France
Collaborators †† Assistance Publique - Hôpitaux de Paris
Investigators † Principal Investigator: Alexandra Dürr, MD, PhD, Assistance Publique - Hôpitaux de Paris
Information Provided By
Verification Date January 2012
First Received Date † August 25, 2005
Last Updated Date January 27, 2012
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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